24 results about "GENETIC ABNORMALITY" patented technology

The invention provides methods for non-invasive prenatal testing that allow for detecting risk of chromosomal and subchromosomal abnormalities, including but not limited to aneuploidies, microdeletions and microduplications, insertions, translocations, inversions and small-size mutations including point mutations and mutational signatures. The methods of the invention utilize a pool of TArget Capture Sequences (TACS) to enrich for sequences of interest in a mixed sample containing both maternal and fetal DNA, followed by massive parallel sequencing and statistical analysis of the enriched population to thereby detect the risk of a genetic abnormality in the fetal DNA. Kits for carrying out the methods of the invention are also provided.

A prognostic risk score for chemotherapy-sensitive cancers, particularly acute myeloid leukemia (AML), is based on somatic genetic abnormalities affecting specific genes in the mitochondrial genome.

This disclosure relates to engineered viral capsid proteins comprising functional sequence motifs and the recombinant virions comprising the same. Furthermore, this disclosure concerns intermediates for the preparation of a surface modified rAAV virion. The surface modified rAAV virions are designed to selectively and / or more efficiently deliver gene therapy. The surface modified rAAV virions, when incorporated into a recombinant virion, can be used to treat an illness characterized by genetic abnormality.

Processes and materials to detect cancer, transplant rejection, or fetal genetic abnormalities from a biopsy are described. In some cases, cell-free nucleic acids can be sequenced, and the sequencing result can be utilized to detect sequences indicative of a neoplasm, transplant rejection, or fetal genetic abnormality. Detection of somatic variants occurring in phase and / or insertions and deletions (indels) can indicate the presence of cancer, transplant rejection, or fetal genetic abnormalities in a diagnostic scan, and a clinical intervention can be performed.

The present invention includes methods for treating a FLT3 mutated proliferative disorder comprising: measuring expression of a mutated FLT3 and a one or more driver mutations in a nuclear transport protein that results in a loss of localization of the nuclear transport protein in a sample obtained from a tumor sample obtained from the patient, wherein the presence of the one or more genetic abnormalities indicates that the patient has a poor prognosis; and administering to the patient a therapeutically effective amount of Crenolanib or a pharmaceutically acceptable salt thereof, wherein the Crenolanib increases a chance of survival of the patient having both the mutated FLT3 and mutation in NPM1 or NUP98, wherein the Crenolanib, as shown below, is administered to a subject suffering from said disorder:

This invention relates to novel surface modified viral capsids and recombinant virions comprising the same. Furthermore, this invention concerns intermediates for the preparation of surface modified viral capsids. The surface modified viral capsids are designed to selectively and / or more efficiently deliver gene therapy. The surface modified viral capsids, when incorporated into a recombinant virion, can be used to treat an illness that is characterized by genetic abnormality.

The present invention relates to the use of cannabidiol (CBD) for the treatment of seizures associated with rare epilepsy syndromes. In particular the seizures associated with rare epilepsy syndromes that are treated are those which are experienced inpatients diagnosed with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) with DEPDC5 gene mutation. In a further embodiment the types of seizures include tonic, tonic-clonic and focal seizures without impairment. Preferably the dose of CBD is between 5 mg / kg / day to 50 mg / kg / day.

The invention provides a therapeutic response model for acute myelogenous leukemia (AML) accompanied with myelodysplastic syndrome related genetic abnormality (MRGA) and application thereof, a survival risk scoring model and application thereof, and the survival risk scoring model is constructed based on the lifetime, cytogenetics abnormality, gene mutation and clinical factors of a patient. Patients are divided into a low-risk group, a medium-risk group and a high-risk group through the model, the AUC value of the patients reaches 0.789-0.831 in the period of 1-3 years, and the clinical practicability of the model in the aspect of making AML treatment decisions based on myeloid associated dysplasia (MRGA) is proved through remarkable survival differences among different risk groups. In addition, a combined scoring system for the treatment response and lifetime of the MRGA AML patient is further developed, and a new technical support is provided for clinical decision-making of the MRGA AML.

The invention provides methods for non-invasive prenatal testing that allow for detecting risk of chromosomal and subchromosomal abnormalities, including but not limited to aneuploidies, microdeletions and microduplications, insertions, translocations, inversions and small-size mutations including point mutations and mutational signatures. The methods of the invention utilize a pool of TArget Capture Sequences (TACS) to enrich for sequences of interest in a mixed sample containing both maternal and fetal DNA, followed by massive parallel sequencing and statistical analysis of the enriched population to thereby detect the risk of a genetic abnormality in the fetal DNA. Kits for carrying out the methods of the invention are also provided.

The present invention includes methods for treating a FLT3 mutated proliferative disorder comprising: measuring expression of a mutated FLT3 and one or more genetic abnormalities in a sample obtained from a tumor sample obtained from the patient, wherein the presence of the one or more genetic abnormalities indicates that the patient has a poor prognosis; and administering to the patient a therapeutically effective amount of crenolanib or a pharmaceutically acceptable salt thereof, wherein the crenolanib increases a chance of survival of the patient having both the mutated FLT3 and the one or more genetic abnormalities, wherein the crenolanib, as shown below, is administered to a subject suffering from said disorder:

Provision of modified viral particles for gene therapy. [Solution] The present invention relates to novel surface-modified viral capsids and recombinant virions containing them. Furthermore, the present invention relates to intermediates for the preparation of surface-modified viral capsids. Surface-modified viral capsids are designed to deliver gene therapy selectively and / or more efficiently. When incorporated into recombinant virions, surface-modified viral capsids can be used to treat diseases characterized by genetic abnormalities.

To provide a novel method for treating PDGFR kinase-mediated tumors such as gastrointestinal stromal tumors and glioblastoma.SOLUTION: A method for treating or preventing tumor growth or tumor progression mediated by PDGFR kinases, comprises administering to a patient in need thereof an effective amount of 1-[4-bromo-5-[1-ethyl-7-(methylamino)-2-oxo-1,2-dihydro-1,6-naphthyridin-3-yl]-2-fluorophenyl]-3-phenylurea or a pharmaceutically acceptable salt thereof.SELECTED DRAWING: Figure 1A

The invention provides a treatment response model for acute myelogenous leukemia (AML) accompanied with myelodysplastic syndrome related genetic abnormality (MRGA) and application thereof, and the model combines clinical data, cytogenetics and molecular biology data of patients. Variables significantly related to the complete remission rate of the patient are screened out through Lasso regression and Cox multivariable regression analysis, a treatment response model for predicting the complete remission rate is constructed based on the variables, and a combined scoring system formed by the treatment response model and a constructed survival risk scoring model is used for predicting the response of the patient to induced treatment and 1-3-year survival prognosis. And an individualized basis is provided for clinical treatment decision-making of the AML patient.

The present disclosure provides methods and compositions for multiplex quantitation. In some aspects, methods and compositions are provided for quantitation of nucleic acid targets from a biological sample. The disclosed methods may be useful in identifying or detecting genetic abnormalities from a subject.

The present invention relates to the use of cannabidivarin (CBDV) for the treatment of seizures associated with rare epilepsy syndromes. In particular, the seizures associated with rare epilepsy syndromes to be treated are those experienced by patients diagnosed with Rett syndrome. In a further embodiment, the types of seizures include focal motor seizures with functional impairment, focal non-motor seizures with functional impairment, generalized motor seizures, generalized non-motor seizures, motor seizures of unknown onset, and non-motor seizures. Preferably, the dose of CBDV is between 2.5 mg / kg / day and 10 mg / kg / day.

Processes and materials to detect cancer, transplant rejection, or fetal genetic abnormalities from a biopsy are described. In some cases, cell-free nucleic acids can be sequenced, and the sequencing result can be utilized to detect sequences indicative of a neoplasm, transplant rejection, or fetal genetic abnormality. Detection of somatic variants occurring in phase and / or insertions and deletions (indels) can indicate the presence of cancer, transplant rejection, or fetal genetic abnormalities in a diagnostic scan, and a clinical intervention can be performed.

This disclosure relates to targeting the central nervous system. Provided are compositions for delivering therapeutics to certain tissue within the CNS. Also provided are novel surface modified viral capsids and recombinant virions comprising the same. Furthermore, this disclosure concerns intermediates for the preparation of surface modified viral capsids. The surface modified viral capsids are designed to selectively and / or more efficiently deliver gene therapy. The surface modified viral capsids, when incorporated into a recombinant virion, can be used to treat an illness that is characterized by genetic abnormality.

To provide: a method for one or more of, treating retinal damage, slowing the progression of retinal damage, preventing retinal damage, replacing retinal tissue and restoring damaged retinal tissue; and a retinal tissue graft.SOLUTION: Bioprosthetic retinal grafts (or devices) comprising stem cell derived tissues and / or cells may be used to slow the progression of retinal degenerative disease, slow the progression of retinal degenerative disease after traumatic injury, slow the progression of age related macular degeneration (AMD), prevent retinal degenerative disease, prevent retinal degenerative disease after traumatic injury, prevent AMD, restore retinal pigment epithelium (RPE), photoreceptor cells (PRCs) and retinal ganglion cells (RGCs) lost from disease, injury or genetic abnormalities, in a subject, or for other purposes. Bioprosthetic retinal grafts may comprise a bioprosthetic carrier or scaffold suitable for implantation into the ocular space of a subject's eye, to form a bioprosthetic retinal patch.SELECTED DRAWING: None

This invention relates to novel surface modified viral capsids and recombinant virions comprising the same. Furthermore, this invention concerns intermediates for the preparation of surface modified viral capsids. The surface modified viral capsids are designed to selectively and / or more efficiently deliver gene therapy. The surface modified viral capsids, when incorporated into a recombinant virion, can be used to treat an illness that is characterized by genetic abnormality.

The present invention provides a quantitative liquid biopsy diagnostic system and methods for performing diagnostic assays. The system offers a liquid biopsy method using circulating tumor cells (CTCs) or White Blood Cells (WBC) subpopulations for precision cancer diagnosis, early detection of disease evolution, and cancer patient management. The invention utilizes selective plane illumination microscopy (SPIM) to deliver high sensitivity and specificity for the detection and isolation of individual CTCs, superseding the efficacy of existing methodologies for early cancer detection. Isolated CTCs can be analyzed for their molecular fingerprint, which can lead to matching genetic abnormalities with specific drug treatments. The system allows ex vivo observation of live CTC or WBC response to treatment. This observation of live cells offers the oncologist a new potential for optimizing therapeutic protocols by testing a patient's own cells, and then administering treatment to the patient with the expectation of improving efficacy and reducing toxicity to normal cells.

The present invention includes methods for treating a FLT3 mutated proliferative disorder comprising: measuring expression of a mutated FLT3 and one or more genetic abnormalities in a sample obtained from a tumor sample obtained from the patient, wherein the presence of the one or more genetic abnormalities indicates that the patient has a poor prognosis; and administering to the patient a therapeutically effective amount of crenolanib or a pharmaceutically acceptable salt thereof, wherein the crenolanib increases a chance of survival of the patient having both the mutated FLT3 and the one or more genetic abnormalities, wherein the crenolanib, as shown below, is administered to a subject suffering from said disorder:

Systems, methods, and compositions for identifying genomic variants and methylation analysis, including synthetic polynucleotide libraries, are provided. The synthetic polynucleotide libraries may comprise a plurality of polynucleotides. The polynucleotides may comprise sequences corresponding to a genetic abnormality in a genome. The stoichiometry of each of the plurality of polynucleotides is controlled. Systems, methods, and compositions described herein may include standards for determining the analytical sensitivity and / or accuracy of instruments configured to measure nucleic acid variant frequencies. Standards may comprise RNA-fusions and / or CNV mutations related to cancer.

A prognostic risk score for chemosensitive cancer, in particular acute myeloid leukemia (AML), based on somatic genetic abnormalities affecting certain genes of the mitochondrial genome.

To provide a system for appropriately proposing treatment choices in consideration of gene abnormality.SOLUTION: A system 1 for proposing treatment options includes a patient information input unit 3 to which patient information including clinical information of a patient is input, a genetic abnormality information input unit 5 to which information on a genetic abnormality of the patient is input, an evidence information recording unit 7 that records the patient information and evidence information related to the genetic abnormality, an evidence information extraction unit 9 that extracts first evidence information, which is evidence information related to the patient, from the evidence information recording unit using the patient information of a certain patient input from the patient information input unit and the information on the genetic abnormality of the patient input from the genetic abnormality information input unit, an evidence information display unit 11 for displaying the first evidence information on a display unit, and a treatment option proposal unit 13 that proposes treatment options based on the patient information using the first evidence information.SELECTED DRAWING: Figure 1